Term Name: | retinitis pigmentosa 76 |
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Synonyms: | RP76 |
Definition: | A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34. |
Ontology: | Human Disease [DOID:0061103] ( DOID:0061103 ) |